Incidental Mutation 'IGL01701:Mat1a'
ID104465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mat1a
Ensembl Gene ENSMUSG00000037798
Gene Namemethionine adenosyltransferase I, alpha
SynonymsAms, SAMS, MAT, SAMS1, MATA1, AdoMet
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL01701
Quality Score
Status
Chromosome14
Chromosomal Location41105035-41124412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41114815 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 167 (D167E)
Ref Sequence ENSEMBL: ENSMUSP00000153488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047286] [ENSMUST00000224514] [ENSMUST00000225720]
Predicted Effect probably benign
Transcript: ENSMUST00000047286
AA Change: D167E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: D167E

DomainStartEndE-ValueType
Pfam:S-AdoMet_synt_N 18 116 1.4e-44 PFAM
Pfam:S-AdoMet_synt_M 130 251 3.1e-46 PFAM
Pfam:S-AdoMet_synt_C 253 390 1.6e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224514
AA Change: D167E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225720
AA Change: D167E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the AdoMet synthase family. Methionine adenosyltransferase is a product of this gene (the alpha form) and the beta form and catalyzes the formation of S-adenosylmethionine from methionine and ATP.[provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Mat1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Mat1a APN 14 41105694 splice site probably benign
IGL01506:Mat1a APN 14 41109438 missense probably damaging 1.00
IGL01616:Mat1a APN 14 41109479 missense probably damaging 1.00
IGL01921:Mat1a APN 14 41114335 splice site probably benign
IGL02681:Mat1a APN 14 41122496 splice site probably benign
IGL03294:Mat1a APN 14 41105604 missense probably benign 0.21
ANU74:Mat1a UTSW 14 41111142 missense probably benign 0.12
R0102:Mat1a UTSW 14 41120230 splice site probably benign
R1445:Mat1a UTSW 14 41121840 missense probably damaging 1.00
R1917:Mat1a UTSW 14 41121437 missense probably damaging 1.00
R1968:Mat1a UTSW 14 41111034 missense probably damaging 1.00
R2518:Mat1a UTSW 14 41122512 missense probably benign 0.00
R3692:Mat1a UTSW 14 41121381 missense probably damaging 0.99
R6546:Mat1a UTSW 14 41121422 missense probably damaging 1.00
R6601:Mat1a UTSW 14 41105604 missense probably benign 0.21
Posted On2014-01-21